**Treatment Hope for Eight-Year-Old Livingston Schoolgirl with Progressive Genetic Disorder**
The parents of an eight-year-old schoolgirl from Livingston were devastated after being given the news that she has a debilitating progressive genetic condition inherited from them. Ella-Rose Kennedy, who attends Howden St Andrew’s Primary, has Friedreich ataxia – a disorder that causes damage to the nervous system and cerebellum, the part of the brain that deals with voluntary movements. One in every 50,000 people are affected by the degenerative disease, in which nerves in the spinal cord break down leading to a deficiency of sensory signals to the brain.
Ella-Rose’s parents, Michael, 44, and Jenny, 42, first noticed something wasn’t quite right with the P5 pupil around a year-and-a-half ago. Jenny said, “At first the GP said it might be dyspraxia, but that is a condition from birth. We suddenly noticed she was having a lot more falls and her motor skills weren’t as good. She also started walking with a bit of a gait.”
Friedreich ataxia is caused by an abnormal gene and insufficient levels of a protein named fraxatin. Parents are unaffected because they only carry a single pathogenic variant, but those affected by the condition inherit variants from each of their parents. The couple’s other children, Ryan, 13, Sophie-Jane, 11, and six-year-old Kade, will now also be tested for the condition next month.
Despite the challenges she faces, Ella-Rose’s parents are in awe of the incredible strength and determination she shows every day. Michael said, “It’s affecting Ella-Rose at school, she was always very popular in class but has been losing her confidence and her pals.” Jenny added, “She went to gymnastics but had to leave, and used to be able to ride a bike but can’t do anything like that now.”
There are already drugs available in the EU and elsewhere to treat adults. The couple believe these could give Ella-Rose and others like her a chance of a brighter future, but time is of the essence. One of those drugs, Nomlabofusp, is to be trialled in children early this year.
“At least they know what it is and there is hope,” Jenny added. “The sooner she gets started on something the better.”
Symptoms of Friedreich ataxia can include balance problems, slurred speech, scoliosis, vision and hearing loss, and thickening of the heart muscles. Ella-Rose has a cardiologist appointment at the end of the month to monitor her condition.
Ella-Rose’s parents are hopeful that new medications and treatments will be approved soon to help children like Ella-Rose lead a better quality of life and manage the symptoms of Friedreich ataxia effectively.
**Summary:**
The article highlights the story of Ella-Rose Kennedy, an eight-year-old schoolgirl from Livingston diagnosed with Friedreich ataxia, a progressive genetic disorder. Despite the challenges she faces, Ella-Rose’s parents are hopeful for new treatments like Nomlabofusp that could potentially halt the progression of the disease. The family’s journey sheds light on the importance of early diagnosis and access to innovative medications for genetic disorders.